Shedding Light on Rare Diseases
Rare diseases, defined as conditions that affect 1 in 2000 people or less, may individually seem like a small problem. However, collectively, they present a significant health issue, impacting 1 in every 15 South Africans, equating to 4.2 million individuals. Globally, rare diseases affect more people than HIV and cancer combined. Despite their prevalence, rare diseases are often overlooked, with over 95% of them lacking a single FDA approved drug treatment.
Current Diagnostic Challenges
Diagnosing rare diseases is a complex and lengthy process. On average, it takes over 5 years or more for a patient to receive a diagnosis, and in LMIC countries like South Africa, this diagnostic odyssey may be even longer. Many rare disease patients may die before a correct diagnosis is made, and others may face life-long disability as a result.
Addressing the unique diagnostic challenges posed by rare diseases requires a multidisciplinary approach. Initiatives are in development to set up a rare disease advisory board, including clinicians from various specialties, to help undiagnosed patients reach a diagnosis faster and expand diagnostic capabilities within the country.
While some rare diseases have no treatment, a diagnosis can bring immense emotional relief and guide management strategies. A diagnosis also provides vital information for family members, helping them to be screened for inherited conditions and make informed family planning decisions.
The Role of the Biobank
The Biobank plays a crucial role in the diagnostic journey of rare diseases, offering a beacon of hope for patients and the medical community alike. By participating in the biobank and sharing their samples, patients contribute significantly to the global effort to advance the understanding and treatment of rare diseases. This collaborative approach has already demonstrated its potential to bring about breakthroughs in diagnosis and therapy, offering a lifeline to those affected by these conditions. While not every patient may benefit directly, the impact extends to future generations through retrospective diagnosis.
The Biobank is dedicated to providing a valuable resource of samples and information, particularly in the realm of inborn errors of congenital anomalies, including rare inborn errors of metabolism. Recognising the extreme rarity of some of these conditions, the Biobank acknowledges that the collection of such samples will be a time-intensive process. However, the rarity of these diseases serves as a compelling motivation to establish a biobank that fosters the advancement of medical and scientific knowledge in this domain.
Rare diseases, often referred to as orphan or neglected diseases due to their low prevalence (less than 5 in 10,000, or 1 in 2,000 people), pose significant challenges to patients, families, and healthcare providers. Obtaining an accurate diagnosis for these conditions is frequently a lengthy and arduous journey due to the limited knowledge surrounding these diseases. Despite their individual rarity, collectively, rare diseases affect between 6-8% of the global human population.